He Yanyan, Wang Wenzhu, Ma Xiao, Duan Zhimin, Wang Baoxi, Li Min, Xu Haoxiang
Institute of Dermatology, Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, China,
Institute of Dermatology, Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, China.
Dermatology. 2024;240(1):119-131. doi: 10.1159/000531978. Epub 2023 Jul 25.
Long noncoding RNAs (lncRNAs) are associated with many dermatologic diseases. However, little is known about the regulatory function of lncRNAs in familial acne inversa (AI) patients with nicastrin (NCSTN) mutation.
The aim of this study was to explore the regulatory function of lncRNAs in familial AI patients with NCSTN mutation.
The expression profiles of lncRNAs and mRNAs in skin tissues from familial AI patients with NCSTN mutation and healthy individuals were analysed in this study via RNA sequencing (RNA-seq).
In total, 359 lncRNAs and 1,863 mRNAs were differentially expressed between the two groups. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analyses revealed that the dysregulated mRNAs targeted by lncRNAs were mainly associated with the immune regulation, Staphylococcus aureus infection and B cell receptor signalling pathways. The lncRNA-miRNA-mRNA coexpression network contained 265 network pairs comprising 55 dysregulated lncRNAs, 11 miRNAs, and 74 mRNAs. Conservation analysis of the differentially expressed lncRNAs between familial AI patients with NCSTN mutation and Ncstn keratinocyte-specific knockout (NcstnΔKC) mice identified 6 lncRNAs with sequence conservation; these lncRNAs may participate in apoptosis, proliferation, and skin barrier function.
These findings provide a direction for exploring the regulatory mechanisms underlying the progression of familial AI patients with NCSTN mutation.
长链非编码RNA（lncRNA）与许多皮肤病相关。然而，关于lncRNA在伴有尼卡斯特林（NCSTN）突变的家族性化脓性汗腺炎（AI）患者中的调节功能知之甚少。
本研究旨在探讨lncRNA在伴有NCSTN突变的家族性AI患者中的调节功能。
本研究通过RNA测序（RNA-seq）分析了伴有NCSTN突变的家族性AI患者和健康个体皮肤组织中lncRNA和mRNA的表达谱。
两组之间共有359个lncRNA和1863个mRNA差异表达。基因本体论（GO）和京都基因与基因组百科全书（KEGG）通路分析显示，lncRNA靶向的失调mRNA主要与免疫调节、金黄色葡萄球菌感染和B细胞受体信号通路相关。lncRNA-miRNA-mRNA共表达网络包含265个网络对，由55个失调的lncRNA、11个miRNA和74个mRNA组成。伴有NCSTN突变的家族性AI患者与Ncstn角质形成细胞特异性敲除（NcstnΔKC）小鼠之间差异表达lncRNA的保守性分析确定了6个具有序列保守性的lncRNA；这些lncRNA可能参与细胞凋亡、增殖和皮肤屏障功能。
这些发现为探索伴有NCSTN突变的家族性AI患者病情进展的调节机制提供了方向。
